Origination and evolution of the human genome
Abstract
Human genome evolution has been managed by converting the genomic DNA coding sequences, appearance of new genes from pseudo-genes and duplications, by the gene function loss and changes in the regulatory transcription and translation mechanisms. The human genome contains conserved and variable DNA sequences, as well as monomorphic and polymorphic genes. Mutational process continuously generates genetic variation for evolution but many mutations associated with diversity of inherited diseases. In addition to genetic information each new human generation receives all previously accumulated knowledge and developes an achievements of culture and civilization. Biological inheritance of evolutionary innovation is supplemented by inheritance of innovation in social, cultural, technological, and information fields. A new stage in the evolution of human civilization is beginning now on base of processes of globalization and exploration of outer space.
References
1. Strickberger, M. W. Evolution. Third Edition / M. W. Strickberger. - Toronto & London: John and Bartlett Publishers, 2000. - 721 p.
2. Heinzelin, J. et al. Environmental and behavior of 2,5 million-year-old Bouri hominid / J. Heinzelin // Science. - 1999. -Vol. 284. - P. 625-629.
3. Clarke, R. J. A new reconstruction of the Florisbad cranium, with note with the site / R. J. Clarke // Ancestors: the Hard Evidence. - 1985. - New York: Liss. - P. 301 - 305.
4. Stringers, C. B., Andrews, P. Genetic and fossil evidence for the origin of modern humans / C. B. Stringers, P. Andrews // Science. - 1988. - Vol. 239. - P. 1263-1268.
5. Wolpoff, M. H. Multiregional evolution: The fossil alternative to Eden / M. H. Wolpoff //The Human Revolution: Behavioural and Biological Perspectives on the Origin Modern Humans, 1989. - Edinburgh: Edinburgh University Press. -P. 62-108.
6. Cann, R. L., Stoneking, M., Wilson, A. C. Mitochondrial DNA and human evolution / R. L. Cann, M. Stoneking, A. C. Wilson // Nature. - 1987. - Vol. 325. - P. 31-36.
7. Hammer, M. F. et. al. Out of Africa and back again: Nested cladistic analysis of human Y chromosome variation / M. F. Hammer // Mol. Biol. and Evol. - 1998. - Vol.15. - P. 427-441.
8. Nei, M., Roychudhury, A. K. Evolutionary relationships of human populations on a global scale / M. Nei, A. K. Roychudhury //Mol. Biol. and Evol. - 1993. - Vol. 10. - P. 927-943.
9. Ayala, F. J. et al. Molecular genetics of speciation and human origin / F. J. Ayala // Proc. Nat. Acad. Sci. - 1994. - Vol. 91. -P. 6787-6794.
10. Cavalli-Sforza et al. Coevolution of genes and languages revisited / Cavalli-Sforza // Proc. Nat. Acad. Sci. - 1992. -Vol. 89. - P. 5620-5624.
11. Pareek, C. S., Smoczyński, R., Tretyn, A. Sequencing technologies and genome sequencing / C. S. Pareek, R. Smoczyński, A. Tretyn // Journal of Applied Genetics. - 2011. - Vol. 552. - Issue 4. - P. 413-435.
12. Chimpanzee Sequencing & Analysis Consortium. Initial sequence of the chimpanzee genome and comparison with the human genome // Nature. - 2005. - Vol. 437, 7055. - P. 69-87.
13. Green, R. E, et. al. A Draft Sequence of the Neandertal Genome / R. E. Green // Science. - 2010. - Vol. 328, 5979. -P. 710-722.
14. Olson, M. V. When less is more: gene loss as an engine of evolutionary change / M. V. Olson // Am. J. Hum. Genet. -1999. - Vol. 64, № 1. - P. 18-23.
15. Wang, X., Grus, W. E., Zhang, J. Gene losses during human origins / X. Wang, W. E. Grus, J. Zhang // Public Library of Science (PLoS) Biol. - 2006. - Vol. 4, № 3. - P. e52.
16. Winter, H., Langbein, L., Krawczak, M., et al. Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence / H. Winter, L. Langbein, M. Krawczak // Hum Genet. - 2001. - Vol.108, № 1. - P. 37-42.
17. Perry, G. H., Verrelli, B. C., Stone, A. C. Comparative analyses reveal a complex history of molecular evolution for human MYH16 / G. H. Perry, B. C. Verrelli, A. C. Stone // Mol Biol Evol. - 2005. - Vol. 22, № 3. - P. 379-382.
18. Wang, X., Grus, W. E., Zhang, J. Gene Losses during Human Origins / X. Wang, W. E. Grus, J. Zhang // Public Library of Science (PLoS) Biol. 2006. - Vol. 4, № 3. - P. e52.
19. Sauchanka, U. K. Coenogenetics: Genetics of Biotic Communities / U. K. Sauchanka // CPL Press, 2001. - 194 p.
20. Sauchanka U. K. Geogenomics: Organisation of the Genosphere / U. K. Sauchanka // CPL Press: Newbury, UK. 2009. - 294 p.
21. Savchenko, V. K. Geogenomika: organizatsiya genosfery / V. K. Savchenko. - Minsk: Belarus. navuka, 2009. - 270 s.
22. Savchenko, V. K. Tsenogenetika: Genetika bioticheskikh soobshchestv / V. K. Savchenko. - Minsk: Belarus. navuka, 2010. - 270 s.
23. Stankiewicz, P., Lupski, J. R. Structural Variation in the Human Genome and its Role in Disease / P. Stankiewicz, J. R. Lupski // Annual Review of Medicine. - 2010. - Vol. 61. - P. 437-455.
24. Cheng, Z., Ventura, M., She, X., et al. A genome-wide comparison of recent chimpanzee and human segmental duplications / Z. Cheng, M. Ventura, X. She // Nature. - 2005. - Vol. 437, № 7055. - P. 88-93.
25. Redon, J., et al. Global variation in copy number in the human genome / J. Redon // Nature. - 2006. - Vol. 444, № 7118. - P. 444-454.
26. Kidd, J. M., Cooper, G. M., Donahue, W. F., et al. Mapping and sequencing of structural variation from eight human genomes / J. M. Kidd, G. M. Cooper, W. F. Donahue // Nature. - 2008. - Vol. 453, № 7191. - P. 56-64.
27. Perry, G. H., et al. Diet and evolution of human amylase gene copy number variation / G. H. Perry // Nature Genetics. -2007. - Vol. 39, 10. - P. 1256-1260.
28. Nishikimi, M., Fukuyama, R., Minoshima, S., Shimizu, N., Yagi, K. Cloning and chromosomal mapping of the human nonfunctional gene for L-gulono-gamma-lactone oxidase, the enzyme for L-ascorbic acid biosynthesis missing in man / M. Nishikimi, R. Fukuyama, S. Minoshima, N. Shimizu, K. Yagi // J. Biol. Chem. - 1994. - Vol. 269, № 18. - R 13685-13688.
29. Xue, Y., Daly, A., et al. Spread of an Inactive Form of Caspase-12 in Humans Is Due to Recent Positive Selection / Y. Xue, A. Daly // Am. J. Hum. Genet. - 2006. - Vol. 78, № 4. - R 659-670.
30. Dewannieux, M., Heidmann, T. LINEs, SINEs and processed pseudogenes: parasitic strategies for genome modeling / M. Dewannieux, T. Heidmann // Cytogenet. Genome Res. - 2005. - Vol. 110, 1-4. - P. 35-48.
31. Baertsch, R., Diekhans, M., Kent, J., Haussler, D., Brosius, J. Retrocopy contributions to the evolution of the human genome / R. Baertsch, M. Diekhans, J. Kent, D. Haussler, J. Brosius // BMC Genomics. - 2008. - Vol. 9. - R. 446-454.
32. Lynch, M., Conery, J. S. The evolutionary fate and consequences of duplicate genes / M. Lynch, J. S. Conery // Science. - 2000. - Vol. 290, № 5494. - R 1151-1155.
33. Betran, E., Wang, W., Jin, L., Long, M. Evolution of the phosphoglycerate mutase processed gene in human and chimpanzee revealing the origin of a new primate gene / E. Betran, W. Wang, L. Jin, M. Long // Mol. Biol. Evol. - 2002. - Vol. 19, № 5. - R 654-663.
34. Harrison, P. M., Hegyi, H., Balasubramanian, S., Luscombe, N. M., Bertone, P., Echols, N., Johnson, T., Gerstein, M. Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22 / P. M. Harrison, H. Hegyi, S. Balasubramanian, N. M. Luscombe, P. Bertone, N. Echols, T. Johnson, M. Gerstein //Genome Res. - 2002. - Vol. 12, № 2. - R 272-280.
35. Hirotsune, S., Yoshida, N., Chen, A, et al. An expressed pseudogene regulates the messenger-RNA stability of its homologous coding gene / S. Hirotsune, N. Yoshida, A. Chen // Nature. - 2003. - Vol. 423, № 6935. - R. 91-96.
36. Balakirev, E. S., Ayala, F. J. Pseudogenes: are they «junk» or functional DNA? / E. S. Balakirev, F. J. Ayala //Annu. Rev. Genet. - 2003. - Vol. 37. - R 123-151.
37. Gray, T. A., Wilson, A., Fortin, P. J., Nicholls, R. D. The putatively functional Mkrn1-p1 pseudogene is neither expressed nor imprinted, nor does it regulate its source gene in trans / T. A. Gray, A. Wilson, P. J. Fortin, R. D. Nicholls // Proc. Nat. Acad. Sci. U. S. A. - 2006. - Vol. 103, № 32. - P. 12039-12044.
38. Tam, O. H., Aravin, A. A., Stein, P., et al. Pseudogene-derived small interfering RNAs regulate gene expression in mouse oocytes / O. H. Tam, A. A. Aravin, P. Stein // Nature. - 2008. - Vol. 453, № 7194. - P. 534-538.
39. Watanabe, T., Totoki, Y., Toyoda, A, et al. Endogenous siRNAs from naturally formed dsRNAs regulate transcripts in mouse oocytes / T. Watanabe, Y. Totoki, A. Toyoda // Nature. - 2008. - Vol. 453, № 7194. - P. 539-543.
40. Sharon, D., Glusman, G., Pilpel, Y., Khen, M., Gruetzner, F., Haaf, T., Lancet, D. Primate evolution of an olfactory receptor cluster: diversification by gene conversion and recent emergence of pseudogenes / D. Sharon, G. Glusman, Y. Pilpel, M. Khen, F. Gruetzner, T. Haaf, D. Lancet // Genomics. - 1999. - Vol. 61, № 1. - P. 24-36.
41. Gerstein, M., Zheng, D. The real life of pseudogenes / M. Gerstein, D. Zheng // Sci. Am. - 2006. - Vol. 295, № 2. -P. 48-55.
42. Knowles, D. G., McLysaght, A. Recent de novo origin of human protein-coding genes / D. G. Knowles, A. McLysaght // Genome Res. - 2009. - Vol. 19, № 10. - P. 1752-1759.
43. Wilson, B. A., Masel, J. Putatively Noncoding Transcripts Show Extensive Association with Ribosomes / B. A. Wilson, J. Masel // Genome Biology & Evolution. - 2011. - Vol. 3. - P. 1245-1252.
44. Ring, H. Z., Kwok, P. Y., Cotton, R. G. Human Variome Project: an international collaboration to catalogue human genetic variation / H. Z. Ring, P. Y. Kwok, R. G. Cotton // Pharmacogenomics. - 2006. - Vol. 7, № 7. - R. 969-972. Science. - 2008. - Vol. 322, № 5903. - P. 861-862.
Review
Views:
2077
ISSN 2524-2369 (Print)
ISSN 2524-2377 (Online)
ISSN 2524-2377 (Online)
Email this article 